Canonical Allele Identifier: CA2293855919
Community Standard Title: NM_001943.5(DSG2):c.690+1G=
Gene: DSG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31522250G= , CM000680.2:g.31522250G= GRCh38
NC_000018.9:g.29102213G= , CM000680.1:g.29102213G= GRCh37
NC_000018.8:g.27356211G= NCBI36
NG_007072.3:g.29009G= , LRG_397:g.29009G=

Transcript Alleles

HGVS Amino-acid Change
NM_001943.5:c.690+1G= MANE Select NP_001934.2:n.690+1G=
ENST00000261590.13:c.690+1G= MANE Select ENSP00000261590.8:n.690+1G=
NM_001943.3:c.690+1G= , LRG_397t1:c.690+1G= NP_001934.2:n.690+1G=
NM_001943.4:c.690+1G= NP_001934.2:n.690+1G=
ENST00000261590.12:c.690+1G= ENSP00000261590.8:n.690+1G=
ENST00000585206.1:c.691G= ENSP00000462503.1:p.Val231=
ENST00000682087.1:c.521+1G=
ENST00000682087.2:n.521+1G=
ENST00000682241.1:c.521+1G=
ENST00000682241.2:c.690+1G= ENSP00000507600.2:n.690+1G=
ENST00000683614.1:c.521+1G=
ENST00000683614.2:n.521+1G=
ENST00000683654.1:c.690+1G= ENSP00000506971.1:n.690+1G=
ENST00000684461.1:n.1361G=
XM_024451095.1:c.156+1G= XP_024306863.1:n.156+1G=